What Genetic Screening Looks For

NxGen has a comprehensive set of genetic screens — both single screens or sets of screens known as "panels." We offer two basic types of screens: carrier screens (which everyone can benefit from) and preimplantation screens (which are for couples pursuing in vitro fertilization). Everyone carries genetic conditions within their DNA. NxGen MDx screens for the most common genetic conditions within any population to determine if you carry one of these and ultimately, to uncover your risk for passing it to your children.

What Genetic Screening Looks For

Discovering Your Genetic Inheritance

The human body is made up of trillions of cells. The vast majority of our cells contain our genetic information, which is inherited from our parents in the form of deoxyribonucleic acid (DNA). A gene is a segment of DNA that is responsible for providing instructions, or a recipe, for how to make a specific protein that the human body needs for normal growth and development. If there are changes (also known as variants) in the recipe of a gene, that protein will be affected in some way and may not be able to complete its job in the human body. Genes are located on larger structures called chromosomes. Humans typically have 23 pairs of chromosomes, which we inherit from our parents—giving us two different copies of each gene that we have. Generally, genes can be either "recessive" or "dominant." The charts below show the how genes can be inherited and how variants can cause a genetic condition based on whether they are recessive or dominant.

Recessive Genetic Disease

A recessive genetic condition occurs when both copies of a particular gene have pathogenic variants. If you have one copy of a gene with a variant and one normal copy of that same gene, you are considered a "carrier" for that recessive genetic condition even though you are not affected by it.

In order for carriers to have a child affected by a recessive genetic condition, both partners would have to be carriers of the same condition.

Dominant Genetic Disease

A dominant genetic condition occurs when one of the two copies of a particular gene has a pathogenic variant. Only one of the copies of the gene needs to have a pathogenic variant in order for an individual to be affected by a dominant genetic condition (recessive conditions require both copies to have variants). If either you or your partner have a dominant genetic condition, you have a 50% risk of having a child affected by that condition.

X-Linked Disorders

The X and Y chromosomes (often called the sex chromosomes) determine whether a baby is male or female. Males have one X and one Y chromosome, while females have two X chromosomes. Some disorders are caused by pathogenic variants of the X chromosome. Generally, if a woman has a pathogenic variant in a gene located on an X chromosome, she is considered a carrier — and has a 50% chance of passing that variant onto her children. If she passes on the variant on to a male child, that child can be affected with the condition. Affected males will not pass the variant onto their sons, but daughters of affected males will be carriers of the variant. Female carriers rarely develop symptoms of the condition but their daughters have a 50% chance of being carriers.

Talk to a Genetic Counselor

As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.

Discuss Your Screening Results

Connect With Our Customer Care Center

Get answers to all your questions related to billing, insurance coverage, the status of your screening results, and more by calling us at (855) 776-9436 or clicking the link below.

Connect With Our  Customer Care Center